CTNND2 deletion and intellectual disability

Chiara Belcaro; Savina Dipresa; Giovanna Morini; Vanna Pecile; Aldo Skabar; Antonella Fabretto

doi:10.1016/j.gene.2015.03.054

CTNND2 deletion and intellectual disability

Gene. 2015 Jul 1;565(1):146-9. doi: 10.1016/j.gene.2015.03.054. Epub 2015 Apr 1.

Authors

Chiara Belcaro¹, Savina Dipresa², Giovanna Morini³, Vanna Pecile³, Aldo Skabar³, Antonella Fabretto³

Affiliations

¹ Department of Medical Sciences, University of Trieste, Italy. Electronic address: [email protected].
² Department of Medical Sciences, University of Trieste, Italy.
³ Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

PMID: 25839933
DOI: 10.1016/j.gene.2015.03.054

Abstract

Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%-18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability.

Keywords: CNV; CTNND2; Deletion; Disability; Intellectual.

Publication types

Case Reports

MeSH terms

Catenins / genetics*
Chromosomes, Human, Pair 5 / genetics
Delta Catenin
Gene Deletion
Humans
Intellectual Disability / genetics*
Intellectual Disability / pathology
Karyotyping
Male
Oligonucleotide Array Sequence Analysis

Substances

Catenins
Delta Catenin
CTNND2 protein, human